ClinVar for MedGen (Select 811528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680914	NM_001875.5(CPS1):c.2420_2423dup (p.Ser808fs)	CPS1 (S808fs +1 more)	Microsatellite (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680913	NM_001875.5(CPS1):c.1390_1397del (p.Pro464fs)	CPS1 (P464fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
Select item 2680912	NM_001875.5(CPS1):c.214del (p.Val72fs)	CPS1 (V72fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680911	NM_001875.5(CPS1):c.2688-1G>A	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680910	NM_001875.5(CPS1):c.2392-1G>A	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680909	NM_001875.5(CPS1):c.2170_2173delinsCCA (p.Ala724fs)	CPS1 (A724fs +1 more)	Indel (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680908	NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)	CPS1 (Q1046* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 2680907	NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)	CPS1 (C648fs +1 more)	Microsatellite (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 2680906	NM_001875.5(CPS1):c.3666+1del	CPS1	Deletion (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680905	NM_001875.5(CPS1):c.4132G>A (p.Ala1378Thr)	CPS1 (A1378T +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680904	NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)	CPS1 (F1092fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 2680903	NM_001875.5(CPS1):c.86G>A (p.Trp29Ter)	CPS1 (W29* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680902	NM_001875.5(CPS1):c.1123C>T (p.Gln375Ter)	CPS1 (Q375* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
Select item 2680901	NM_001875.5(CPS1):c.79C>T (p.Gln27Ter)	CPS1 (Q27* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680900	NM_001875.5(CPS1):c.1796dup (p.Cys600fs)	CPS1 (C600fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680899	NM_001875.5(CPS1):c.4326del (p.Asn1442fs)	CPS1 (N1442fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680898	NM_001875.5(CPS1):c.3404+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
Select item 2680897	NM_001875.5(CPS1):c.340G>T (p.Glu114Ter)	CPS1 (E114* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680896	NM_001875.5(CPS1):c.1344del (p.Ala448_Val449insTer)	CPS1	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680895	NM_001875.5(CPS1):c.1547del (p.Cys516fs)	CPS1 (C516fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680894	NM_001875.5(CPS1):c.274C>T (p.Gln92Ter)	CPS1 (Q103* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680893	NM_001875.5(CPS1):c.1707+2T>G	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680892	NM_001875.5(CPS1):c.4002+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680891	NM_001875.5(CPS1):c.2885_2889del (p.Tyr962fs)	CPS1 (Y962fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680890	NM_001875.5(CPS1):c.1962del (p.Asp654fs)	CPS1 (D654fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680888	NM_001875.5(CPS1):c.3336+2T>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 2680887	NM_001875.5(CPS1):c.711+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680886	NM_001875.5(CPS1):c.3317G>A (p.Trp1106Ter)	CPS1 (W1106* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680885	NM_001875.5(CPS1):c.3100G>T (p.Glu1034Ter)	CPS1 (E1034* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680884	NM_001875.5(CPS1):c.712-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680883	NM_001875.5(CPS1):c.2876A>G (p.Tyr959Cys)	CPS1 (Y959C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680882	NM_001875.5(CPS1):c.3775A>T (p.Arg1259Ter)	CPS1 (R1259* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680881	NM_001875.5(CPS1):c.2830-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680880	NM_001875.5(CPS1):c.3481-2A>G	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680879	NM_001875.5(CPS1):c.79del (p.Gln27fs)	CPS1 (Q27fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680878	NM_001875.5(CPS1):c.1812_1813del (p.Glu604fs)	CPS1 (E604fs +1 more)	Microsatellite (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to	GPathogenic
Select item 2680877	NM_001875.5(CPS1):c.711+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to	GLikely pathogenic
Select item 2680876	NM_001875.5(CPS1):c.2568+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 2501128	NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)	CPS1 (R721Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 2445716	NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)	CPS1 (P265L +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 1968039	NM_001875.5(CPS1):c.1596del (p.Val533fs)	CPS1 (V544fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1696209	NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)	CPS1 (L390R +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 1512118	NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)	CPS1	Deletion (inframe_deletion +1 more)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 1468413	NM_001875.5(CPS1):c.3141+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 1458373	NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)	CPS1 (V457G +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1457814	NM_001875.5(CPS1):c.3682del (p.Arg1228fs)	CPS1 (R1228fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1434103	NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)	CPS1 (K1258T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 1413631	NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)	CPS1 (D1095N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 1412608	NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 1400087	NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)	CPS1 (L1127* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 1361235	NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter)	CPS1 (Y140* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1343551	NM_001875.5(CPS1):c.3337-1G>T	CPS1	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 1192241	NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)	CPS1	Deletion (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 1070204	NM_001875.5(CPS1):c.1424del (p.Gly475fs)	CPS1 (G475fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 1069282	NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter)	CPS1 (W1397* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 1069203	NM_001875.5(CPS1):c.1549+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
Select item 1069202	NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)	CPS1 (Q478* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 1068171	NM_001875.5(CPS1):c.840+1G>T	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 1032779	NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)	CPS1 (I1043M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GUncertain significance
Select item 984186	NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)	CPS1 (C644* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 983916	NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)	CPS1 (Q1213* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 967151	NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)	CPS1 (R1453W +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 936338	NM_001875.5(CPS1):c.3336+1G>A	CPS1	Single nucleotide variant (splice donor variant)	Congenital hyperammonemia, type I +1 more	GLikely pathogenic
Select item 897642	NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)	CPS1 (I385T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 895907	NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)	CPS1 (R1239W +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GUncertain significance
Select item 854122	NM_001875.5(CPS1):c.1110del (p.Phe371fs)	CPS1 (F382fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 852940	NM_001875.5(CPS1):c.3903del (p.Pro1302fs)	CPS1 (P1302fs +1 more)	Deletion (frameshift variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 749210	NM_001875.5(CPS1):c.1708-5G>A	CPS1	Single nucleotide variant (intron variant)	Congenital hyperammonemia, type I +1 more	GBenign/Likely benign
Select item 702366	NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)	CPS1 (K875E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 659565	NM_001875.5(CPS1):c.2549G>A (p.Arg850His)	CPS1 (R850H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 656636	NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)	CPS1 (R814G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 576447	NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)	CPS1 (A543T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 567695	NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)	CPS1 (N970S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 558118	NM_001875.5(CPS1):c.1837-8A>G	CPS1	Single nucleotide variant (intron variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 557702	NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)	CPS1 (I937N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 557698	NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)	CPS1 (G401R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 557195	NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)	CPS1 (I937fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 556766	NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)	CPS1 (R814W +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 556714	NM_001875.5(CPS1):c.1263+5G>C	CPS1	Single nucleotide variant (intron variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 556326	NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)	CPS1 (R174W +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 556287	NM_001875.5(CPS1):c.4274+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 555253	NM_001875.5(CPS1):c.2740G>C (p.Asp914His)	CPS1 (D914H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 554657	NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)	CPS1 (P1411L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 554642	NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)	CPS1 (R1262Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GUncertain significance
Select item 554348	NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)	CPS1	Single nucleotide variant (stop lost +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GUncertain significance
Select item 554027	NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	CPS1 (R721* +1 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 553751	NM_001875.5(CPS1):c.1529del (p.Gly510fs)	CPS1 (G510fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic
Select item 553496	NM_001875.5(CPS1):c.1413dup (p.Asn472fs)	CPS1 (N483fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GLikely pathogenic
Select item 552974	NM_001875.5(CPS1):c.4101+2T>C	CPS1	Single nucleotide variant (splice donor variant)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 552749	NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	CPS1 (T1391M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 552571	NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)	CPS1 (R1262* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic
Select item 550641	NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)	CPS1 (P382L +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 550006	NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)	CPS1 (G987C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 549970	NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)	CPS1 (G301E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital hyperammonemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 496145	NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)	CPS1 (Y962fs +1 more)	Deletion (frameshift variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +1 more	GPathogenic/Likely pathogenic
Select item 477855	NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)	CPS1 (A1155V +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GUncertain significance
Select item 477854	NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)	CPS1	Duplication (inframe_insertion +1 more)	Congenital hyperammonemia, type I +1 more	GPathogenic/Likely pathogenic
Select item 477853	NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)	CPS1 (A949T +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GUncertain significance
Select item 451569	NM_001875.5(CPS1):c.1926del (p.Asp642fs)	CPS1 (D642fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 449391	NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)	CPS1 (A438P +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, neonatal, susceptibility to +2 more	GLikely pathogenic

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